Identification of a point mutation in the human lysosomal α-glucosidase gene causing infantile glycogenosis type II
- 16 September 1991
- journal article
- Published by Elsevier in Biochemical and Biophysical Research Communications
- Vol. 179 (2) , 919-926
- https://doi.org/10.1016/0006-291x(91)91906-s
Abstract
No abstract availableKeywords
This publication has 15 references indexed in Scilit:
- An Xbal restriction site polymorphism in the acid α-glucosidase gene (GAA)Nucleic Acids Research, 1991
- Characterization of the human lysosomal α-glucosidase geneBiochemical Journal, 1990
- HindIII/EcoRI polymorphism in the GAA geneNucleic Acids Research, 1990
- Sequence of the cDNA and 5′-Flanking Region for Human Acid α-Glucosidase, Detection of an Intron in the 5′ Untranslated Leader Sequence, Definition of 18-bp Polymorphisms, and Differences with Previous cDNA and Amino Acid SequencesDNA and Cell Biology, 1990
- An investigation of the properties and possible clinical significance of the lysosomal ?-glucosidase GAA 2 alleleAnnals of Human Genetics, 1989
- Prospect for enzyme therapy in glycogenosis II variants: a study on cultured muscle cellsZeitschrift für Neurologie, 1988
- Clinical diversity in glycogenosis type II. Biosynthesis and in situ localization of acid alpha-glucosidase in mutant fibroblasts.Journal of Clinical Investigation, 1987
- Adult forms of glycogenosis type IIFEBS Letters, 1982
- Extension of human acid ?-glucosidase polymorphism by isoelectric focusing in polyacrylamide gelAnnals of Human Genetics, 1982
- Acid α‐glucosidase: A new polymorphism in man demonstrable by ‘affinity’ electrophoresisAnnals of Human Genetics, 1975